Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 4508
Gene Symbol: ATP6
ATP6
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 2006
Gene Symbol: ELN
ELN
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 55023
Gene Symbol: PHIP
PHIP
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 2259
Gene Symbol: FGF14
FGF14
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 55670
Gene Symbol: PEX26
PEX26
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 79053
Gene Symbol: ALG8
ALG8
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 4298
Gene Symbol: MLLT1
MLLT1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 5080
Gene Symbol: PAX6
PAX6
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 6663
Gene Symbol: SOX10
SOX10
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 2627
Gene Symbol: GATA6
GATA6
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 GeneticVariation CLINVAR

Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation CLINVAR